Results from Five-Year Genome Project Increase Understanding of Gene Regulation

Results of a five-year international study of the regulation and organization of the human genome have revealed that more than 80% of the human genome is associated with biological function and have established the ways in which genetic information is controlled and expressed in specific cell types - particularly regulatory regions that may contribute to development of diseases.

The human genome consists of about three billion DNA base pairs, but only a small percentage of DNA actually codes for proteins. The roles and functions of the remaining genetic information have been unclear. A significant amount of new information about the human genome has now been released by the ENCODE project. ENCODE, which stands for the Encyclopedia of DNA Elements, was headquartered at the University of California, Santa Cruz (USA). The ENCODE project comprised more than 440 scientists in 32 laboratories in the United States, the United Kingdom, Spain, Singapore, and Japan. These investigators performed more than 1,600 sets of experiments on 147 types of tissue.

The main ENCODE results have been made available by the Journal of Biological Chemistry and are available for download free of charge online (please see Related Links below).

"The ENCODE project not only generated an enormous body of data about our genome, but it also analyzed many issues to better understand how the genome functions in different types of cells. These insights from integrative analyses are really stories about how molecular machines interact with each other and work on DNA to produce the proteins and RNAs needed for each cell to function within our bodies," said contributing author Dr. Ross Hardison, professor of biochemistry and molecular biology at Pennsylvania State University (University Park, USA). "The Journal of Biological Chemistry recognized that the results from the ENCODE project also would catalyze much new research from biochemists and molecular biologists around the world. Hence, the journal commissioned these articles not only to communicate the insights from the papers now being published but also to stimulate more research in the broader community."

"The deeper knowledge of gene regulation coming from the ENCODE project will have a positive impact on medical science," said Dr. Hardison. "For example, recent genetic studies have revealed many genomic locations that can affect a person's susceptibility to common diseases. The ENCODE data show that many of these regions are involved in gene regulation, and the data provide hypotheses for how variations in these regions can affect disease susceptibility."

Related Links:
The ENCODE project
University of California, Santa Cruz
JBC ENCODE Results